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. 2018 Mar 22;14(3):e1007264. doi: 10.1371/journal.pgen.1007264

Fig 3. Sanger confirmation of the MKLN1:c.400+3A>C variant.

Fig 3

(A) Electropherograms from dogs with the three different genotypes. (B) Wildtype and mutant allele compared to the consensus sequence for the human U2 GT-AG type 5’-splice sites [13]. Subscript numbers in the consensus sequence indicate the percentage of the respective conserved nucleotide in 183,682 investigated human 5’-splice site motifs of the U2 GT-AG type. The additional difference to the optimal consensus in the U1 spliceosomal RNA recognition site in the mutant allele is highlighted in red. In human 5’-splice sites the most frequent base at position 3 is an A (60%). G is also common at this position (35%), while C and T are both rare (<3%) [13].